| HPO |
HP:0005950 |
Laryngeal web |
"A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." [HPO:probinson] |
Manifestations may appear at any age (hoarse or weak voice and frequent upper respiratory infections) but onset usually occurs during infancy (respiratory distress, stridor and an unusual cry). |
HP:0025423 |
| HPO |
HP:0005951 |
Progressive inspiratory stridor |
— |
— |
HP:0005348 |
| HPO |
HP:0005952 |
Decreased pulmonary function |
— |
— |
HP:0002795 |
| HPO |
HP:0005954 |
Pulmonary capillary hemangiomatosis |
— |
— |
HP:0004930, HP:0005306, HP:0007461 |
| HPO |
HP:0005956 |
Anteroposteriorly shortened larynx |
"Abnormal shortening of the larynx in the anteroposterior (front to back) axis." [HPO:probinson] |
— |
HP:0025423 |
| HPO |
HP:0005957 |
Breathing dysregulation |
— |
— |
HP:0002795 |
| HPO |
HP:0005959 |
Impaired gluconeogenesis |
"An impairment of gluconeogenesis." [HPO:gcarletti] |
— |
HP:0011014 |
| HPO |
HP:0005961 |
Hypoargininemia |
"A decreased concentration of arginine in the blood." [HPO:gcarletti] |
— |
HP:0010909 |
| HPO |
HP:0005964 |
Intermittent hypothermia |
"Episodes of reduced body termperature." [HPO:probinson] |
— |
HP:0002045 |
| HPO |
HP:0005967 |
Mixed respiratory and metabolic acidosis |
— |
— |
HP:0001942 |
| HPO |
HP:0005968 |
Temperature instability |
"Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature." [HPO:curators] |
— |
HP:0004370 |
| HPO |
HP:0005972 |
Respiratory acidosis |
"Acidosis because of respiratory retention of carbon dioxide." [HPO:probinson] |
— |
HP:0001941 |
| HPO |
HP:0005973 |
Fructose intolerance |
"Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance." [PMID:24357350] |
— |
HP:0011033 |
| HPO |
HP:0005974 |
Episodic ketoacidosis |
"Intermittent episodes of ketoacidosis." [HPO:probinson] |
— |
HP:0001993 |
| HPO |
HP:0005976 |
Hyperkalemic metabolic acidosis |
— |
— |
HP:0001942 |
| HPO |
HP:0005977 |
Hypochloremic metabolic alkalosis |
— |
— |
HP:0001948 |
| HPO |
HP:0005978 |
Type II diabetes mellitus |
"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia." [HPO:probinson] |
Persons with type II diabetes mellitus rarely develop ketoacidosis. |
HP:0000819 |
| HPO |
HP:0005979 |
Metabolic ketoacidosis |
"A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake." [] |
— |
HP:0001942, HP:0001993 |
| HPO |
HP:0005982 |
Reduced phenylalanine hydroxylase level |
"A reduction in phenylalanine 4-monooxygenase level." [HPO:probinson] |
— |
HP:0012379 |
| HPO |
HP:0005984 |
Elevated maternal serum alpha-fetoprotein |
"An elevation of alpha-feto protein in the maternal serum." [HPO:curators] |
— |
HP:0006254 |
| HPO |
HP:0005986 |
Limitation of neck motion |
— |
— |
HP:0000464 |
| HPO |
HP:0005987 |
Multinodular goiter |
"Enlargement of the thyroid gland related to multiple nodules in the thyroid gland." [DDD:spark] |
— |
HP:0005994 |
| HPO |
HP:0005988 |
Congenital muscular torticollis |
"A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending." [HPO:probinson] |
Congenital muscular torticollis is thought to result from injury to the sternocleidomastoid muscle during birth trauma, resulting in fibrosis and unilateral shortening of the sternocleidomastoid muscle. Congenital muscular torticollis is thus etiologically and phenotypically distinct from spasmodic torticollis. |
HP:0011006 |
| HPO |
HP:0005989 |
Redundant neck skin |
"Excess skin around the neck, often lying in horizontal folds." [PMID:19125436] |
With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used. |
HP:0000464, HP:0001582 |
| HPO |
HP:0005990 |
Thyroid hypoplasia |
"Developmental hypoplasia of the thyroid gland." [HPO:probinson] |
— |
HP:0033079 |